间期核FISH技术快速诊断染色体畸变在选择性减胎中的应用

The application of interphase FISH in rapid diagnosis of chromosome aberration in selective twin pregnancy reduction

目的探讨间期核荧光原位杂交技术(FISH)快速检测双胎之一染色体畸变在孕中期选择性减胎中的应用价值。方法对5例双胎之一为染色体畸变且缺乏超声标志病例分别抽取羊水采用目标染色体探针行间期核FISH检测,根据检测结果判断被减胎儿进行选择性减胎,随访观察胎儿生长发育及分娩情况。结果间期核FISH均在短时内明确异常胎儿,辅助完成孕中期选择性减胎。5例孕妇术后未出现并发症,胎儿出生后一般情况好。结论间期核FISH在选择性减胎术前应用,未增加手术操作风险同时避免了减错胎的风险,对于超声难以辨认异常胎儿时的选择性减胎,是一种可行的补救措施。

Objective： To investigate the application value of interphase nuclear fluorescence in situ hybridization （FISH） for rapid detection of one of the twin fetal chromosome aberration in the mid-term selective reduction of pregnancy. Methods： 5 cases of one of twins with chromosomal aberration and lack of ultrasonic sign were selected. The amniotic fluid was detected by interphase FISH of target chromosome probe. According to the results of the test, the fetus was selectively reduced and the remaining fetal growth and delivery were followed up. Results： The interphase FISH clearly defined the abnormal fetus in short time, and assisted to complete the selective pregnancy reduction in the mid-term pregnancy. 5 cases of pregnant women have no complications after operation, and the fetus were good after birth. Conclusion： The application of interphase nucleus FISH before selective fetal reduction does not increase the risk of operative operation, but also avoids the risk of reducing the fetus. It is a feasible remedial measure for selective fetal reduction when ultrasound is difficult to identify abnormal fetus.